view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX6_chr11_15961449_16361546 | 16132400 | AAAAAGAA others(6): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 216 | 0.0046 | -13 | c.778 others(32): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16149467 | TATAAAGT others(6): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0005 others(5): Show |
8 | 216 | 0.0370 | -13 | c.777 others(32): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 979197 | CTCTCAGG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0002 | 1 | 432 | 0.0023 | -13 | c.-27 others(24): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 2572 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 2 | 0.5000 | -13 | c.205 others(30): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230168108 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0224 | 1 | 151 | 0.0066 | -13 | c.*10 others(24): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 19/19 | 1003 | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230381124 | AACCCATG others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02886.hp1 others(2): Show |
a0002 | a0002c0002a0002c0024 | a0002c0002t0001a0002c0024t0001 | a0002c0002t0001g0242 a0002c0002t0001g0279 a0002c0002t0001g0280 others(2): Show |
5 | 334 | 0.0150 | -13 | c.638 others(30): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 7/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230229456 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0341 a0001c0001t0001g0342 |
4 | 208 | 0.0192 | -13 | c.59+ others(28): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230288505 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 367 | 0.0027 | -13 | c.172 others(30): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53397579 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0004 | a0002c0004t0076 | a0002c0004t0076g0257 | 1 | 226 | 0.0044 | -13 | c.167 others(32): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173928575 | AATCCTGA others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0010a0001c0001t0076a0001c0001t0077others(3): Show | a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0094 others(8): Show |
11 | 354 | 0.0311 | -13 | c.164 others(32): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173963919 | GGGGAGGG others(6): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0073 | 1 | 354 | 0.0028 | -13 | c.157 others(26): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21442025 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 424 | 0.0024 | -13 | c.167 others(34): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21460082 | TAATTCTT others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 424 | 0.0024 | -13 | c.167 others(34): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 187 | 0.0107 | -13 | c.-40 others(24): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790871 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 414 | 0.0024 | -13 | c.-40 others(24): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3986 | chr7 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 32998932 | TCCACCTA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 468 | 0.0021 | -13 | c.*11 others(24): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 1056 | chr17 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602703 | AAATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 389 | 0.0026 | -13 | c.-42 others(24): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4038 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602705 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01069.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 30 | 294 | 0.1020 | -13 | c.-42 others(24): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4036 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383116 | AAAAGAAA others(6): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02723.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(4): Show |
7 | 288 | 0.0243 | -13 | c.94+ others(28): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383125 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 389 | 0.0026 | -13 | c.94+ others(28): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112414388 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00642.hp2 others(68): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0110 a0001c0001t0001g0321 others(65): Show |
71 | 76 | 0.9342 | -13 | c.445 others(32): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA9_chr9_132873898_132895030 | 132881262 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0008 | a0001c0003t0003g0016 a0001c0003t0003g0048 a0001c0003t0008g0016 others(3): Show |
7 | 425 | 0.0165 | -13 | c.-38 others(30): Show |
SPACA9 | ENSG00000165698.16 | transcript | ENST00000356311.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 4 | 0.2500 | -13 | c.*23 others(24): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213373108 | CATAGCCT others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0041 a0002c0002t0001g0051 a0003c0003t0001g0043 others(1): Show |
4 | 86 | 0.0465 | -13 | c.833 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 8/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213377893 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03225.hp1 HG03239.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0002g0072 a0002c0002t0001g0060 others(1): Show |
4 | 69 | 0.0580 | -13 | c.942 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213377895 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01256.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 others(18): Show |
21 | 82 | 0.2561 | -13 | c.942 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213377897 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG03831.hp1 NA18522.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0001 a0002c0002t0002g0074 a0003c0003t0001g0050 |
3 | 85 | 0.0353 | -13 | c.942 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213377899 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 HG02895.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 others(7): Show |
10 | 86 | 0.1163 | -13 | c.942 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213593746 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 6 | 0.1667 | -13 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643398 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 86 | 0.0116 | -13 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213724789 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 86 | 0.0116 | -13 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213728876 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 15 | 0.0667 | -13 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213859204 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02293.hp1 others(4): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0002c0002t0002a0003c0003t0003others(1): Show | a0002c0002t0001g0001 a0002c0002t0002g0073 a0003c0003t0003g0019 others(4): Show |
7 | 86 | 0.0814 | -13 | c.107 others(32): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214165469 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 18 | 0.0556 | -13 | c.172 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214219956 | TTGGCAGG others(6): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG01361.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(15): Show |
18 | 86 | 0.2093 | -13 | c.172 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214261107 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0080 | 1 | 46 | 0.0217 | -13 | c.172 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 117986939 | TGAAATAC others(6): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02622.hp2 HG02735.hp1 others(3): Show |
a0001a0002a0008 | a0001c0019a0001c0025a0002c0002others(1): Show | a0001c0019t0001a0001c0025t0001a0002c0002t0001others(1): Show | a0001c0019t0001g0226 a0001c0019t0001g0227 a0001c0025t0001g0063 others(3): Show |
6 | 264 | 0.0227 | -13 | c.566 others(30): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 40/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100183852 | TATGTATC others(6): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01361.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0008 a0002c0001t0001g0341 |
3 | 364 | 0.0082 | -13 | c.489 others(27): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 5/18 | chr8 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100206017 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0020 a0002c0001t0001g0296 |
2 | 36 | 0.0556 | -13 | c.109 others(32): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22346484 | CTTCTTCT others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0077 a0002c0002t0009g0004 |
2 | 140 | 0.0143 | -13 | c.121 others(28): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG7_chr17_4954226_4972817 | 4958066 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 201 | 0.0100 | -13 | c.*14 others(24): Show |
SPAG7 | ENSG00000091640.8 | transcript | ENST00000206020.8 | protein_coding | 1159 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 50998022 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 HG03041.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0007a0002c0003t0021 | a0002c0003t0005g0094 a0002c0003t0007g0077 a0002c0003t0007g0096 others(5): Show |
8 | 179 | 0.0447 | -13 | c.183 others(30): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 15/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51025316 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061 a0001c0001t0002g0066 |
2 | 72 | 0.0278 | -13 | c.784 others(30): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 6/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053853 | AAGTATAT others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG01358.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(12): Show |
15 | 240 | 0.0625 | -13 | c.495 others(30): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG04115.hp1 NA19000.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0058 a0001c0003t0001g0185 |
2 | 41 | 0.0488 | -13 | c.153 others(32): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87506772 | ATCTATCT others(6): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 388 | 0.0026 | -13 | c.-11 others(30): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87530074 | ATGGTAAG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02965.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0006 | a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0006g0257 |
3 | 388 | 0.0077 | -13 | c.-10 others(24): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 699 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32066981 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0074 others(70): Show |
73 | 340 | 0.2147 | -13 | c.415 others(30): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083737 | ATATTTAT others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0014 | a0001c0001t0004g0225 a0001c0001t0004g0290 a0001c0001t0009g0070 others(4): Show |
7 | 340 | 0.0206 | -13 | c.416 others(30): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32146851 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 222 | 0.0045 | -13 | c.168 others(30): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |